@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP878400.RAthgSBfc5xyrJH93sMfWpzka1GQICSzbW_nVj2AZfwQY
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP878400.RAthgSBfc5xyrJH93sMfWpzka1GQICSzbW_nVj2AZfwQY130_head
{
this:
np:hasAssertion
dgn-np:NP878400.RAthgSBfc5xyrJH93sMfWpzka1GQICSzbW_nVj2AZfwQY130_assertion
;
np:hasProvenance
dgn-np:NP878400.RAthgSBfc5xyrJH93sMfWpzka1GQICSzbW_nVj2AZfwQY130_provenance
;
np:hasPublicationInfo
dgn-np:NP878400.RAthgSBfc5xyrJH93sMfWpzka1GQICSzbW_nVj2AZfwQY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP878400.RAthgSBfc5xyrJH93sMfWpzka1GQICSzbW_nVj2AZfwQY130_assertion
a
np:Assertion
.
dgn-np:NP878400.RAthgSBfc5xyrJH93sMfWpzka1GQICSzbW_nVj2AZfwQY130_provenance
a
np:Provenance
.
dgn-np:NP878400.RAthgSBfc5xyrJH93sMfWpzka1GQICSzbW_nVj2AZfwQY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP878400.RAthgSBfc5xyrJH93sMfWpzka1GQICSzbW_nVj2AZfwQY130_assertion
{
miriam-gene:1540
a
ncit:C16612
.
lld:C1857941
a
ncit:C7057
.
dgn-gda:DGNa549ff831ffc82effa200bff38220249
sio:SIO_000628
miriam-gene:1540
,
lld:C1857941
;
a
sio:SIO_001121
.
}
dgn-np:NP878400.RAthgSBfc5xyrJH93sMfWpzka1GQICSzbW_nVj2AZfwQY130_provenance
{
dgn-np:NP878400.RAthgSBfc5xyrJH93sMfWpzka1GQICSzbW_nVj2AZfwQY130_assertion
dcterms:description
"[Although some early studies suggested a role for the PTCH gene on chromosome 9q22.3 in the etiopathogenesis of MFT, recent studies of occasional patients with the MFT clinical phenotype identified mutations in the CYLD gene on chromosome 16q12-q13, a gene responsible for BSS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:21389835
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP878400.RAthgSBfc5xyrJH93sMfWpzka1GQICSzbW_nVj2AZfwQY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:22+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}